ReviewJournal of inherited metabolic disease2014
Skin manifestations in CDG.
Review in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
20 citing papers in PubMed, 50 citations in OpenAlex.
- From Isoprene Units to Polyprenols and Dolichols: 70 Years of Polyisoprenoid Biosynthesis Research.Cell biochemistry and biophysics · 2026Review
- Endocrine Implications of Congenital Disorders of GlycosylationJournal of clinical research in pediatric endocrinology · 2026Review
- Syndromic ichthyoses.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2023Article
- Identification and characterization of a new variation inFrontiers in genetics · 2023Article
- DDOST-CDG: Clinical and molecular characterization of a third patient with a milder and a predominantly movement disorder phenotype.Journal of inherited metabolic disease · 2023Article
- Review
- Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.Molecular genetics & genomic medicine · 2021Review
- Fructose and Mannose in Inborn Errors of Metabolism and Cancer.Metabolites · 2021Review
- Fatal Neonatal DOLK-CDG as a Rare Form of Syndromic Ichthyosis.Frontiers in genetics · 2021Article
- SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.Frontiers in genetics · 2021Article
- Neonatal presentation of COG6-CDG with prominent skin phenotype.JIMD reports · 2020Article
- The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.American journal of medical genetics. Part C, Seminars in medical genetics · 2020Article
- Genetics of Inherited Ichthyoses and Related Diseases.Acta dermato-venereologica · 2020Review
- Congenital disorders of glycosylation.Annals of translational medicine · 2018Review
- Severe ichthyosis in MPDU1-CDG.Journal of inherited metabolic disease · 2018Article
- What is new in CDG?Journal of inherited metabolic disease · 2017Review
- Classical Galactosaemia and CDG, the N-Glycosylation Interface. A Review.JIMD reports · 2017Article
- Immunological aspects of congenital disorders of glycosylation (CDG): a review.Journal of inherited metabolic disease · 2016Review
- Quo vadis: the re-definition of "inborn metabolic diseases".Journal of inherited metabolic disease · 2015Article
- Transferrin isoelectric focusing for the investigation of congenital disorders of glycosylation: analysis of a ten-year experience in a Brazilian center.Jornal de pediatriaObservational
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The group of congenital disorders of glycosylation (CDG) has expanded tremendously since its first description in 1980, with around 70 distinct disorders described to date. A great phenotypic variability exists, ranging from multisystem disease to single organ involvement. Skin manifestations, although inconsistently present, are part of this broad clinical spectrum. Indeed, the presence of inverted nipples, fat pads and orange peel skin in a patient with developmental delay are considered as a hallmark of CDG, particularly seen in PMM2 deficiency. However, over the years many more dermatological findings have been observed (e.g., ichthyosis, cutis laxa, tumoral calcinosis…). In this review we will discuss the variety of skin manifestations reported in CDG. Moreover, we will explore the possible mechanisms that link a certain glycosylation deficiency to its skin phenotype.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.